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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-1362499-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1362499&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1362499,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032520.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Glu192Gln",
"transcript": "NM_032520.5",
"protein_id": "NP_115909.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 305,
"cds_start": 574,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000204679.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032520.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Glu192Gln",
"transcript": "ENST00000204679.9",
"protein_id": "ENSP00000204679.4",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 305,
"cds_start": 574,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032520.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000204679.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Glu232Gln",
"transcript": "ENST00000891792.1",
"protein_id": "ENSP00000561851.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 345,
"cds_start": 694,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891792.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.658G>C",
"hgvs_p": "p.Glu220Gln",
"transcript": "ENST00000529110.2",
"protein_id": "ENSP00000435349.2",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 333,
"cds_start": 658,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529110.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Glu211Gln",
"transcript": "ENST00000891785.1",
"protein_id": "ENSP00000561844.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 324,
"cds_start": 631,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891785.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Glu208Gln",
"transcript": "ENST00000683887.1",
"protein_id": "ENSP00000506886.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 321,
"cds_start": 622,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683887.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Glu205Gln",
"transcript": "ENST00000947151.1",
"protein_id": "ENSP00000617210.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 318,
"cds_start": 613,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947151.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Glu192Gln",
"transcript": "ENST00000891787.1",
"protein_id": "ENSP00000561846.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 315,
"cds_start": 574,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891787.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Glu202Gln",
"transcript": "ENST00000891793.1",
"protein_id": "ENSP00000561852.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 315,
"cds_start": 604,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891793.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.559G>C",
"hgvs_p": "p.Glu187Gln",
"transcript": "ENST00000891789.1",
"protein_id": "ENSP00000561848.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 300,
"cds_start": 559,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891789.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Glu186Gln",
"transcript": "ENST00000891784.1",
"protein_id": "ENSP00000561843.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 299,
"cds_start": 556,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891784.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Glu192Gln",
"transcript": "ENST00000891788.1",
"protein_id": "ENSP00000561847.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 287,
"cds_start": 574,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891788.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.490G>C",
"hgvs_p": "p.Glu164Gln",
"transcript": "ENST00000891790.1",
"protein_id": "ENSP00000561849.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 277,
"cds_start": 490,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891790.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.448G>C",
"hgvs_p": "p.Glu150Gln",
"transcript": "ENST00000891791.1",
"protein_id": "ENSP00000561850.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 263,
"cds_start": 448,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.570+4G>C",
"hgvs_p": null,
"transcript": "ENST00000891786.1",
"protein_id": "ENSP00000561845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.412-112G>C",
"hgvs_p": null,
"transcript": "ENST00000928980.1",
"protein_id": "ENSP00000599039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.1721G>C",
"hgvs_p": null,
"transcript": "ENST00000527076.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.673G>C",
"hgvs_p": null,
"transcript": "ENST00000527168.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527168.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.632G>C",
"hgvs_p": null,
"transcript": "ENST00000529957.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000529957.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.*306G>C",
"hgvs_p": null,
"transcript": "ENST00000683366.1",
"protein_id": "ENSP00000507283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.568G>C",
"hgvs_p": null,
"transcript": "ENST00000684100.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684100.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.632G>C",
"hgvs_p": null,
"transcript": "ENST00000684126.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684126.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.1199G>C",
"hgvs_p": null,
"transcript": "ENST00000684688.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.*306G>C",
"hgvs_p": null,
"transcript": "ENST00000683366.1",
"protein_id": "ENSP00000507283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683366.1"
}
],
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"dbsnp": "rs749314645",
"frequency_reference_population": 0.0000013681837,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136818,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8599891662597656,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.554,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1389,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.101,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032520.5",
"gene_symbol": "GNPTG",
"hgnc_id": 23026,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Glu192Gln"
}
],
"clinvar_disease": "GNPTG-mucolipidosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "GNPTG-mucolipidosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}